Fanconi Anemia

Common Name(s)

Fanconi Anemia

Fanconi anemia is an inherited condition that affects the bone marrow, resulting in decreased production of all types of blood cells. People with this condition have lower-than-normal numbers of white blood cells, red blood cells, and platelets (cells that help the blood clot). Not enough white blood cells can lead to infections; a lack of red blood cells may result in anemia; and a decreased amount of platelets may lead to excess bleeding. Fanconi anemia can be caused by mutations in various genes; it can either be inherited in an autosomal recessive or X-linked recessive fashion.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Fanconi Anemia" for support, advocacy or research.

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Canadian Fanconi Anemia Research Fund

Fanconi Canada is a registered charity that funds research in Canada into an effective treatment and, ultimately, a cure for Fanconi anemia and serves as a support network for affected Canadian families.

Last Updated: 24 Nov 2009

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Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

Last Updated: 26 Dec 2012

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Fanconi Anemia Research Fund, Inc.

Our mission is to find effective treatments and a cure for Fanconi anemia and to provide education and support services to affected families worldwide.

Last Updated: 29 Apr 2014

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National Bone Marrow Transplant Link

The mission of the National Bone Marrow Transplant Link is to help patients, caregivers, and families cope with the social and emotional challenges of bone marrow/stem cell transplant from diagnosis through survivorship by providing vital information and personalized support services.

Last Updated: 20 Feb 2013

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Fanconi Anemia" for support, advocacy or research.

Logo
Canadian Fanconi Anemia Research Fund

Fanconi Canada is a registered charity that funds research in Canada into an effective treatment and, ultimately, a cure for Fanconi anemia and serves as a support network for affected Canadian families.

http://www.fanconicanada.org/en/

Last Updated: 24 Nov 2009

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Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

http://www.jewishgenetics.org

Last Updated: 26 Dec 2012

View Details
Fanconi Anemia Research Fund, Inc.

Our mission is to find effective treatments and a cure for Fanconi anemia and to provide education and support services to affected families worldwide.

http://www.fanconi.org

Last Updated: 29 Apr 2014

View Details
National Bone Marrow Transplant Link

The mission of the National Bone Marrow Transplant Link is to help patients, caregivers, and families cope with the social and emotional challenges of bone marrow/stem cell transplant from diagnosis through survivorship by providing vital information and personalized support services.

http://www.nbmtlink.org

Last Updated: 20 Feb 2013

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Fanconi Anemia" returned 449 free, full-text research articles on human participants. First 3 results:

RNF4-mediated polyubiquitination regulates the Fanconi anemia/BRCA pathway.
 

Author(s): Jenny Xie, Hyungjin Kim, Lisa A Moreau, Shannon Puhalla, Judy Garber, Muthana Al Abo, Shunichi Takeda, Alan D D'Andrea

Journal: J. Clin. Invest.. 2015 Apr;125(4):1523-32.

 

The Fanconi anemia/BRCA (FA/BRCA) pathway is a DNA repair pathway that is required for excision of DNA interstrand cross-links. The 17 known FA proteins, along with several FA-associated proteins (FAAPs), cooperate in this pathway to detect, unhook, and excise DNA cross-links and ...

Last Updated: 2 Apr 2015

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Ubiquitin-SUMO circuitry controls activated fanconi anemia ID complex dosage in response to DNA damage.
 

Author(s): Ian Gibbs-Seymour, Yasuyoshi Oka, Eeson Rajendra, Brian T Weinert, Lori A Passmore, Ketan J Patel, Jesper V Olsen, Chunaram Choudhary, Simon Bekker-Jensen, Niels Mailand

Journal: Mol. Cell. 2015 Jan;57(1):150-64.

 

We show that central components of the Fanconi anemia (FA) DNA repair pathway, the tumor suppressor proteins FANCI and FANCD2 (the ID complex), are SUMOylated in response to replication fork stalling. The ID complex is SUMOylated in a manner that depends on the ATR kinase, the FA ...

Last Updated: 10 Jan 2015

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Oxymetholone therapy of fanconi anemia suppresses osteopontin transcription and induces hematopoietic stem cell cycling.
 

Author(s): Qing-Shuo Zhang, Eric Benedetti, Matthew Deater, Kathryn Schubert, Angela Major, Carl Pelz, Soren Impey, Laura Marquez-Loza, R Keaney Rathbun, Shigeaki Kato, Grover C Bagby, Markus Grompe

Journal: Stem Cell Reports. 2015 Jan;4(1):90-102.

 

Androgens are widely used for treating Fanconi anemia (FA) and other human bone marrow failure syndromes, but their mode of action remains incompletely understood. Aged Fancd2(-/-) mice were used to assess the therapeutic efficacy of oxymetholone (OXM) and its mechanism of action. ...

Last Updated: 17 Jan 2015

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Fanconi Anemia" returned 44 free, full-text review articles on human participants. First 3 results:

Fanconi anemia: a signal transduction and DNA repair pathway.
 

Author(s): Gary M Kupfer

Journal:

 

Fanconi anemia (FA) is a fascinating, rare genetic disorder marked by congenital defects, bone marrow failure, and cancer susceptibility. Research in recent years has led to the elucidation of FA as a DNA repair disorder and involved multiple pathways as well as having wide applicability ...

Last Updated: 18 Dec 2013

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Oxidative stress-associated protein tyrosine kinases and phosphatases in Fanconi anemia.
 

Author(s): Jie Li, Qishen Pang

Journal: Antioxid. Redox Signal.. 2014 May;20(14):2290-301.

 

Fanconi anemia (FA) is a genetic disorder featuring chromosomal instability, developmental defects, progressive bone marrow failure, and predisposition to cancer. Besides the predominant role in DNA damage response and/or repair, many studies have linked FA proteins to oxidative stress. ...

Last Updated: 14 Apr 2014

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Why does the bone marrow fail in Fanconi anemia?
 

Author(s): Juan I Garaycoechea, K J Patel

Journal: Blood. 2014 Jan;123(1):26-34.

 

The inherited bone marrow failure (BMF) syndromes are a rare and diverse group of genetic disorders that ultimately result in the loss of blood production. The molecular defects underlying many of these conditions have been elucidated, and great progress has been made toward understanding ...

Last Updated: 3 Jan 2014

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Quercetin in Children With Fanconi Anemia; a Pilot Study
 

Status: Recruiting

Condition Summary: Fanconi Anemia

 

Last Updated: 5 May 2015

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Use Massive Parallel Sequencing and Exome Capture Technology to Sequence the Exome of Fanconi Anemia Children and Their Patents
 

Status: Available

Condition Summary: Fanconi Anemia; Autosomal or Sex Linked Recessive Genetic Disease; Bone Marrow Hematopoiesis Failure, Multiple Congenital Abnormalities, and Susceptibility to Neoplastic Diseases.; Hematopoiesis Maintainance.

 

Last Updated: 21 Nov 2013

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Hematopoietic Stem Cell Transplantation in High Risk Patients With Fanconi Anemia
 

Status: Recruiting

Condition Summary: Fanconi Anemia

 

Last Updated: 9 Apr 2015

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